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20号染色体长臂缺失在髓系疾病中的预后意义。

The prognostic significance of deletion of the long arm of chromosome 20 in myeloid disorders.

作者信息

Campbell L J, Garson O M

机构信息

Department of Cytogenetics, St Vincent's Hospital, Melbourne, Australia.

出版信息

Leukemia. 1994 Jan;8(1):67-71.

PMID:8289501
Abstract

A review of patients with myeloid disorders presenting to a large cytogenetic referral centre over a ten year period was undertaken to assess the clinical relevance of the presence of del(20q) in their malignant karyotypes. Twenty-six patients were identified, four with myeloproliferative disorders (MPD), 15 with myelodysplastic syndromes (MDS) and seven with acute leukemia. The presence of del(20q) in four patients with MPD did not appear to adversely affect survival, with all patients alive 18 to 184 months post diagnosis. However, the 15 patients with MDS had a median survival of only 12 months. Seven of these patients developed acute leukemia including three of four patients with refractory anemia with ringed sideroblasts (RARS). Of the seven patients with acute leukemia de novo and del(20q), six were treated with only two achieving complete remission. The median duration of survival for these seven patients was 5 months. These results, when compared with published survival data from the MIC Cooperative Group, indicated that del(20q) in MDS is associated with a high rate of transformation to acute leukemia and a poor prognosis. In de novo acute leukemia, del(20q) is associated with a poor response to treatment and reduced survival.

摘要

对一家大型细胞遗传学转诊中心在十年期间收治的骨髓疾病患者进行了一项回顾性研究,以评估恶性核型中del(20q)的存在与临床的相关性。共确定了26例患者,其中4例为骨髓增殖性疾病(MPD),15例为骨髓增生异常综合征(MDS),7例为急性白血病。4例MPD患者中del(20q)的存在似乎并未对生存产生不利影响,所有患者在诊断后18至184个月均存活。然而,15例MDS患者的中位生存期仅为12个月。其中7例患者发展为急性白血病,包括4例伴有环形铁粒幼细胞的难治性贫血(RARS)患者中的3例。在7例初发急性白血病且伴有del(20q)的患者中,6例接受了治疗,仅有2例获得完全缓解。这7例患者的中位生存期为5个月。这些结果与MIC协作组公布的生存数据相比,表明MDS中的del(20q)与急性白血病的高转化率和不良预后相关。在初发急性白血病中,del(20q)与治疗反应不佳和生存期缩短相关。

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